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The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR–1 gene. In patients with a full mutation, abnormal methylation results in suppression of FMR–1Expand
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Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
A POLYGLUTAMINE expansion (encoded by a CAG repeat) in specific proteins causes neurodegeneration in Huntington's disease (HD) and four other disorders1–6, by an unknown mechanism thought to involveExpand
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Structure, localization and transcriptional properties of two classes of retinoic acid receptor alpha fusion proteins in acute promyelocytic leukemia (APL): structural similarities with a new family
Acute promyelocytic leukemia (APL) is due to a chromosomal t(15;17) translocation which involves a novel human gene, Myl, (also named PML) and the retinoic acid (RA) receptor alpha (RAR‐alpha) gene.Expand
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The N‐terminal part of TIF1, a putative mediator of the ligand‐dependent activation function (AF‐2) of nuclear receptors, is fused to B‐raf in the oncogenic protein T18.
Nuclear receptors (NRs) bound to response elements mediate the effects of cognate ligands on gene expression. Their ligand‐dependent activation function, AF‐2, presumably acts on the basalExpand
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Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the frataxin gene. In order to unravel frataxin function we developed monoclonal antibodiesExpand
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hTAF(II)68, a novel RNA/ssDNA‐binding protein with homology to the pro‐oncoproteins TLS/FUS and EWS is associated with both TFIID and RNA polymerase II.
TFIID is the main sequence‐specific DNA‐binding component of the RNA polymerase II (Pol II) transcriptional machinery. It is a multiprotein complex composed of the TATA‐binding protein (TBP) andExpand
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Transcriptional activity of pannier is regulated negatively by heterodimerization of the GATA DNA-binding domain with a cofactor encoded by the u-shaped gene of Drosophila.
The genes pannier (pnr) and u-shaped (ush) are required for the regulation of achaete-scute during establishment of the bristle pattern in Drosophila. pnr encodes a protein belonging to the GATAExpand
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Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
Huntington's disease (HD) results from the expansion of a polyglutamine encoding CAG repeat in a gene of unknown function. The wide expression of this transcript does not correlate with the patternExpand
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Characterization of a premeiotic germ cell-specific cytoplasmic protein encoded by Stra8, a novel retinoic acid-responsive gene
The full-length cDNA corresponding to Stra8, a novel gene inducible by retinoic acid (RA) in P19 embryonal carcinoma cells, has been isolated and shown to encode a 45-kD protein. Both Stra8 mRNA andExpand
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Expression of Matrix Metalloproteinases during Rat Skin Wound Healing: Evidence that Membrane Type-1 Matrix Metalloproteinase Is a Stromal Activator of Pro-Gelatinase A
Skin wound healing depends on cell migration and extracellular matrix remodeling. Both processes, which are necessary for reepithelization and restoration of the underlying connective tissue, areExpand
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